Product Details

Assay Reference Genome
Location

Chr.19:45534178 on build GRCh38
Cytoband
19q13.32
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
80207
Gene Symbol
OPA3
Gene Name
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Gene Aliases
MGA3
Location
Chr.19:45527767-45584864 on build GRCh38
Assay Gene Location
Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
OPA3 NM_001017989.2 NP_001017989.2
AK098798.1 BAC05415.1
BC047316.1 AAH47316.1
BC064146.1 AAH64146.1
DB034102.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833848 Chr19:45457372 - 45644939 on Build GRCh38 Loss PPM1N GPR4 ERCC1 FOSB EML2-AS1 VASP RTN2 OPA3 MIR330 EML2
esv3644507 Chr19:45533027 - 45534790 on Build GRCh38 Loss OPA3
esv2718632 Chr19:45533015 - 45534794 on Build GRCh38 Deletion OPA3

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